Showing results (521-530 of 1,075) with videos related to

Sort By:
Pageof 108
European Journal of Pediatrics|January 1, 1994
Neurological manifestations of organic acid disordersG F Hoffmann, K M Gibson, F K Trefz, et al.
Scientific Reports|October 28, 2016
CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria modelYi Pan, Nan Shen, Sabine Jung-Klawitter, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 23, 2019
Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published casesShoko Komatsuzaki, Matthias Zielonka, William K Mountford, et al.
AIDS (London, England)|June 17, 2004
Long-term pharmacokinetics of amprenavir in combination with delavirdine in HIV-infected childrenC Engelhorn, F Hoffmann, M Kurowski, et al.
Orphanet Journal of Rare Diseases|April 10, 2019
High blood pressure, a red flag for the neonatal manifestation of urea cycle disordersUlrike Teufel, Peter Burgard, Jochen Meyburg, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 21, 2020
Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathiesJulian Schröter, Jan H Döring, Sven F Garbade, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 21, 2017
Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolismJessica J Y Lee, Wyeth W Wasserman, Georg F Hoffmann, et al.
The Journal of Biological Chemistry|October 23, 1997
Identification of an active site alanine in mevalonate kinase through characterization of a novel mutation in mevalonate kinase deficiencyD D Hinson, K L Chambliss, G F Hoffmann, et al.
Pageof 108